NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)
|
rs2230488
|
0.24795
|
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser)
|
rs56218010
|
0.01619
|
NM_004586.3(RPS6KA3):c.1080G>A (p.Glu360=)
|
rs114337467
|
0.00622
|
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=)
|
rs139718656
|
0.00549
|
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=)
|
rs56338023
|
0.00336
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val)
|
rs140987045
|
0.00109
|
NM_004586.3(RPS6KA3):c.631+18G>A
|
rs182515508
|
0.00104
|
NM_004586.3(RPS6KA3):c.1023T>C (p.His341=)
|
rs150848826
|
0.00100
|
NM_004586.3(RPS6KA3):c.244-5T>C
|
rs192189478
|
0.00083
|
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp)
|
rs150107747
|
0.00073
|
NM_004586.3(RPS6KA3):c.2073C>T (p.Asn691=)
|
rs766164918
|
0.00017
|
NM_004586.3(RPS6KA3):c.1237A>G (p.Arg413Gly)
|
rs765914103
|
0.00005
|
NM_004586.3(RPS6KA3):c.1242C>T (p.Asn414=)
|
rs142680221
|
0.00005
|
NM_004586.3(RPS6KA3):c.1246A>G (p.Ile416Val)
|
rs148050184
|
0.00005
|
NM_004586.3(RPS6KA3):c.846-6A>G
|
rs375177835
|
0.00004
|
NM_004586.3(RPS6KA3):c.1212A>G (p.Val404=)
|
rs773807871
|
0.00003
|
NM_004586.3(RPS6KA3):c.1227+9A>T
|
rs776061198
|
0.00003
|
NM_004586.3(RPS6KA3):c.987G>A (p.Thr329=)
|
rs750203223
|
0.00003
|
NM_004586.3(RPS6KA3):c.1086T>C (p.Thr362=)
|
rs778140223
|
0.00002
|
NM_004586.3(RPS6KA3):c.1362T>G (p.Asp454Glu)
|
rs762253691
|
0.00002
|
NM_004586.3(RPS6KA3):c.1467G>A (p.Val489=)
|
rs1277225078
|
0.00002
|
NM_004586.3(RPS6KA3):c.1960-3C>T
|
rs1207197365
|
0.00001
|
NM_004586.3(RPS6KA3):c.407-4T>G
|
rs1040089025
|
0.00001
|
NM_004586.3(RPS6KA3):c.631+9A>C
|
rs747820943
|
0.00001
|
NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del
|
|
|
NC_000023.10:g.(?_20173516)_(20174387_?)del
|
|
|
NC_000023.10:g.(?_20173516)_(20195222_?)dup
|
|
|
NC_000023.10:g.(?_20173516)_(20213283_?)dup
|
|
|
NC_000023.10:g.(?_20173516)_(20252952_?)dup
|
|
|
NC_000023.10:g.(?_20204394)_(20206108_?)del
|
|
|
NC_000023.11:g.(?_20155378)_(20176518_?)dup
|
|
|
NG_007488.1:g.67535_67536ins[N[2800];67522_67535]
|
|
|
NM_004586.3(RPS6KA3):c.1000-10T>C
|
|
|
NM_004586.3(RPS6KA3):c.1000-10del
|
rs748680802
|
|
NM_004586.3(RPS6KA3):c.1000-18T>C
|
|
|
NM_004586.3(RPS6KA3):c.1000-19dup
|
rs748680802
|
|
NM_004586.3(RPS6KA3):c.1000-2A>G
|
rs2148664125
|
|
NM_004586.3(RPS6KA3):c.1000-7C>T
|
rs1555933444
|
|
NM_004586.3(RPS6KA3):c.1000-8C>T
|
|
|
NM_004586.3(RPS6KA3):c.1004T>C (p.Leu335Pro)
|
rs2067699414
|
|
NM_004586.3(RPS6KA3):c.1022del (p.His341fs)
|
rs2148664069
|
|
NM_004586.3(RPS6KA3):c.1026G>A (p.Pro342=)
|
|
|
NM_004586.3(RPS6KA3):c.1029A>G (p.Pro343=)
|
|
|
NM_004586.3(RPS6KA3):c.1038T>C (p.Pro346=)
|
|
|
NM_004586.3(RPS6KA3):c.1062A>G (p.Thr354=)
|
|
|
NM_004586.3(RPS6KA3):c.1103-10C>T
|
|
|
NM_004586.3(RPS6KA3):c.1147C>T (p.Arg383Trp)
|
rs122454129
|
|
NM_004586.3(RPS6KA3):c.1148G>C (p.Arg383Pro)
|
|
|
NM_004586.3(RPS6KA3):c.1151G>T (p.Gly384Val)
|
rs2067670297
|
|
NM_004586.3(RPS6KA3):c.1152del (p.Phe385fs)
|
rs2148662359
|
|
NM_004586.3(RPS6KA3):c.1166C>A (p.Ala389Asp)
|
|
|
NM_004586.3(RPS6KA3):c.118C>G (p.Pro40Ala)
|
rs2148784759
|
|
NM_004586.3(RPS6KA3):c.1219A>G (p.Ile407Val)
|
|
|
NM_004586.3(RPS6KA3):c.1227+14T>C
|
|
|
NM_004586.3(RPS6KA3):c.1227+18T>C
|
|
|
NM_004586.3(RPS6KA3):c.1227+7G>A
|
|
|
NM_004586.3(RPS6KA3):c.1248T>G (p.Ile416Met)
|
|
|
NM_004586.3(RPS6KA3):c.124A>G (p.Thr42Ala)
|
|
|
NM_004586.3(RPS6KA3):c.126+13T>C
|
|
|
NM_004586.3(RPS6KA3):c.126+19C>T
|
|
|
NM_004586.3(RPS6KA3):c.1269A>T (p.Glu423Asp)
|
rs2067605278
|
|
NM_004586.3(RPS6KA3):c.127-19C>G
|
|
|
NM_004586.3(RPS6KA3):c.1291G>T (p.Gly431Cys)
|
|
|
NM_004586.3(RPS6KA3):c.1296C>T (p.Ser432=)
|
|
|
NM_004586.3(RPS6KA3):c.1304_1307del (p.Val435fs)
|
rs797045920
|
|
NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter)
|
rs1160828151
|
|
NM_004586.3(RPS6KA3):c.1336A>G (p.Met446Val)
|
|
|
NM_004586.3(RPS6KA3):c.1353+13dup
|
rs766402947
|
|
NM_004586.3(RPS6KA3):c.1353+5A>T
|
|
|
NM_004586.3(RPS6KA3):c.1353+6T>A
|
|
|
NM_004586.3(RPS6KA3):c.1354-12T>G
|
|
|
NM_004586.3(RPS6KA3):c.1354-15A>G
|
|
|
NM_004586.3(RPS6KA3):c.1354-17A>C
|
|
|
NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val)
|
rs2148653302
|
|
NM_004586.3(RPS6KA3):c.1377C>T (p.Asp459=)
|
|
|
NM_004586.3(RPS6KA3):c.1402C>G (p.Leu468Val)
|
|
|
NM_004586.3(RPS6KA3):c.1409A>G (p.Tyr470Cys)
|
rs2148653268
|
|
NM_004586.3(RPS6KA3):c.1413A>G (p.Gly471=)
|
|
|
NM_004586.3(RPS6KA3):c.1422A>G (p.Pro474=)
|
|
|
NM_004586.3(RPS6KA3):c.1428_1430del (p.Ile477del)
|
rs1603420690
|
|
NM_004586.3(RPS6KA3):c.1443+6T>C
|
rs2067519822
|
|
NM_004586.3(RPS6KA3):c.1444_1959dup (p.Val482_Lys653dup)
|
|
|
NM_004586.3(RPS6KA3):c.1446A>C (p.Val482=)
|
|
|
NM_004586.3(RPS6KA3):c.1460A>T (p.Lys487Met)
|
rs2148650076
|
|
NM_004586.3(RPS6KA3):c.1483C>A (p.Leu495Ile)
|
|
|
NM_004586.3(RPS6KA3):c.1507G>C (p.Asp503His)
|
rs2067475470
|
|
NM_004586.3(RPS6KA3):c.1540C>T (p.Arg514Ter)
|
|
|
NM_004586.3(RPS6KA3):c.1566_1567insTG (p.Ile523Ter)
|
|
|
NM_004586.3(RPS6KA3):c.1593C>T (p.His531=)
|
|
|
NM_004586.3(RPS6KA3):c.1602+13A>C
|
|
|
NM_004586.3(RPS6KA3):c.1602+17C>T
|
|
|
NM_004586.3(RPS6KA3):c.1602+2del
|
rs2148649846
|
|
NM_004586.3(RPS6KA3):c.1602+2dup
|
|
|
NM_004586.3(RPS6KA3):c.1603-19T>G
|
|
|
NM_004586.3(RPS6KA3):c.1603-5A>G
|
rs1569194162
|
|
NM_004586.3(RPS6KA3):c.1662G>A (p.Pro554=)
|
|
|
NM_004586.3(RPS6KA3):c.1686dup (p.Gly563fs)
|
|
|
NM_004586.3(RPS6KA3):c.1710G>A (p.Ala570=)
|
|
|
NM_004586.3(RPS6KA3):c.1740del (p.Cys579_Tyr580insTer)
|
rs2148643497
|
|
NM_004586.3(RPS6KA3):c.1762G>A (p.Glu588Lys)
|
|
|
NM_004586.3(RPS6KA3):c.1762G>C (p.Glu588Gln)
|
rs1555927532
|
|
NM_004586.3(RPS6KA3):c.1765-2A>C
|
rs2067343280
|
|
NM_004586.3(RPS6KA3):c.1814G>A (p.Gly605Asp)
|
|
|
NM_004586.3(RPS6KA3):c.1823T>G (p.Leu608Arg)
|
rs2067342745
|
|
NM_004586.3(RPS6KA3):c.1842-20T>C
|
|
|
NM_004586.3(RPS6KA3):c.1842-7A>G
|
|
|
NM_004586.3(RPS6KA3):c.1845del (p.Gly614_Tyr615insTer)
|
rs1569190602
|
|
NM_004586.3(RPS6KA3):c.1851A>G (p.Pro617=)
|
|
|
NM_004586.3(RPS6KA3):c.1858A>G (p.Asn620Asp)
|
rs2148635858
|
|
NM_004586.3(RPS6KA3):c.1877C>T (p.Pro626Leu)
|
rs1555926370
|
|
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter)
|
rs1085307639
|
|
NM_004586.3(RPS6KA3):c.1900G>T (p.Gly634Cys)
|
rs1555926346
|
|
NM_004586.3(RPS6KA3):c.1920C>T (p.Leu640=)
|
|
|
NM_004586.3(RPS6KA3):c.1952C>T (p.Thr651Ile)
|
|
|
NM_004586.3(RPS6KA3):c.1959+17A>C
|
|
|
NM_004586.3(RPS6KA3):c.1959+2dup
|
rs1057518853
|
|
NM_004586.3(RPS6KA3):c.1960-16A>T
|
|
|
NM_004586.3(RPS6KA3):c.1960-6_1971del
|
|
|
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs)
|
rs1555924704
|
|
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter)
|
rs1603417440
|
|
NM_004586.3(RPS6KA3):c.2000G>A (p.Arg667Lys)
|
|
|
NM_004586.3(RPS6KA3):c.2005_2008del (p.Thr669fs)
|
|
|
NM_004586.3(RPS6KA3):c.2022C>T (p.Leu674=)
|
|
|
NM_004586.3(RPS6KA3):c.2037C>T (p.Ile679=)
|
|
|
NM_004586.3(RPS6KA3):c.2065C>T (p.Gln689Ter)
|
rs122454128
|
|
NM_004586.3(RPS6KA3):c.2093dup (p.Val699fs)
|
|
|
NM_004586.3(RPS6KA3):c.2095G>A (p.Val699Ile)
|
|
|
NM_004586.3(RPS6KA3):c.2100+10C>T
|
|
|
NM_004586.3(RPS6KA3):c.2100+15A>G
|
|
|
NM_004586.3(RPS6KA3):c.2100+5G>A
|
|
|
NM_004586.3(RPS6KA3):c.2101-19C>A
|
|
|
NM_004586.3(RPS6KA3):c.2101-2A>G
|
|
|
NM_004586.3(RPS6KA3):c.2118A>G (p.Thr706=)
|
|
|
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)
|
rs2068650679
|
|
NM_004586.3(RPS6KA3):c.2142G>A (p.Gln714=)
|
|
|
NM_004586.3(RPS6KA3):c.2142_2145dup (p.Pro716fs)
|
rs2148622591
|
|
NM_004586.3(RPS6KA3):c.2144del (p.Ser715fs)
|
rs1603417213
|
|
NM_004586.3(RPS6KA3):c.2162T>G (p.Val721Gly)
|
|
|
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)
|
rs1555924331
|
|
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)
|
rs28935171
|
|
NM_004586.3(RPS6KA3):c.2196del (p.Ile735fs)
|
rs1603417191
|
|
NM_004586.3(RPS6KA3):c.2204T>A (p.Ile735Asn)
|
|
|
NM_004586.3(RPS6KA3):c.2205C>T (p.Ile735=)
|
|
|
NM_004586.3(RPS6KA3):c.224G>T (p.Gly75Val)
|
rs122454124
|
|
NM_004586.3(RPS6KA3):c.225G>T (p.Gly75=)
|
rs1555950495
|
|
NM_004586.3(RPS6KA3):c.243+19C>T
|
|
|
NM_004586.3(RPS6KA3):c.243+1G>A
|
rs1603428228
|
|
NM_004586.3(RPS6KA3):c.243+6T>G
|
|
|
NM_004586.3(RPS6KA3):c.244-17C>T
|
|
|
NM_004586.3(RPS6KA3):c.244-1G>A
|
|
|
NM_004586.3(RPS6KA3):c.244-20T>C
|
|
|
NM_004586.3(RPS6KA3):c.244-4G>T
|
|
|
NM_004586.3(RPS6KA3):c.244-7A>C
|
|
|
NM_004586.3(RPS6KA3):c.244G>T (p.Val82Phe)
|
rs122454126
|
|
NM_004586.3(RPS6KA3):c.251del (p.Phe83_Leu84insTer)
|
rs2148721944
|
|
NM_004586.3(RPS6KA3):c.295A>G (p.Met99Val)
|
rs1569232184
|
|
NM_004586.3(RPS6KA3):c.300G>T (p.Lys100Asn)
|
|
|
NM_004586.3(RPS6KA3):c.304T>C (p.Leu102=)
|
|
|
NM_004586.3(RPS6KA3):c.307AAG[1] (p.Lys104del)
|
rs2148721833
|
|
NM_004586.3(RPS6KA3):c.318A>G (p.Thr106=)
|
|
|
NM_004586.3(RPS6KA3):c.325+16A>G
|
|
|
NM_004586.3(RPS6KA3):c.325+6T>A
|
|
|
NM_004586.3(RPS6KA3):c.326-11A>G
|
rs1555943503
|
|
NM_004586.3(RPS6KA3):c.326-16dup
|
rs2068239940
|
|
NM_004586.3(RPS6KA3):c.326-1G>C
|
rs587776755
|
|
NM_004586.3(RPS6KA3):c.326-20A>C
|
|
|
NM_004586.3(RPS6KA3):c.327del (p.Arg110fs)
|
rs1555943492
|
|
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter)
|
rs1555943484
|
|
NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter)
|
rs1555943479
|
|
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp)
|
rs122454127
|
|
NM_004586.3(RPS6KA3):c.341G>A (p.Arg114Gln)
|
|
|
NM_004586.3(RPS6KA3):c.343A>T (p.Thr115Ser)
|
rs387906703
|
|
NM_004586.3(RPS6KA3):c.387T>C (p.Phe129=)
|
|
|
NM_004586.3(RPS6KA3):c.406+11G>A
|
rs2148703536
|
|
NM_004586.3(RPS6KA3):c.406+12C>A
|
|
|
NM_004586.3(RPS6KA3):c.406+13C>T
|
|
|
NM_004586.3(RPS6KA3):c.406+14G>A
|
|
|
NM_004586.3(RPS6KA3):c.406+1G>T
|
|
|
NM_004586.3(RPS6KA3):c.407-1G>T
|
|
|
NM_004586.3(RPS6KA3):c.426G>A (p.Lys142=)
|
|
|
NM_004586.3(RPS6KA3):c.432T>G (p.Tyr144Ter)
|
rs2148701884
|
|
NM_004586.3(RPS6KA3):c.443A>T (p.Asp148Val)
|
rs2148701829
|
|
NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs)
|
rs1603426295
|
|
NM_004586.3(RPS6KA3):c.455GAG[1] (p.Gly153del)
|
rs398122813
|
|
NM_004586.3(RPS6KA3):c.460G>C (p.Asp154His)
|
rs2148701796
|
|
NM_004586.3(RPS6KA3):c.486+20T>G
|
|
|
NM_004586.3(RPS6KA3):c.486+3A>G
|
rs1603426293
|
|
NM_004586.3(RPS6KA3):c.512A>G (p.Lys171Arg)
|
|
|
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys)
|
rs122454130
|
|
NM_004586.3(RPS6KA3):c.593+16A>G
|
|
|
NM_004586.3(RPS6KA3):c.593+2_593+5del
|
rs1555942692
|
|
NM_004586.3(RPS6KA3):c.593+7A>C
|
|
|
NM_004586.3(RPS6KA3):c.594-10dup
|
rs755566588
|
|
NM_004586.3(RPS6KA3):c.594-18T>C
|
|
|
NM_004586.3(RPS6KA3):c.594T>G (p.Asn198Lys)
|
|
|
NM_004586.3(RPS6KA3):c.598C>T (p.Leu200Phe)
|
|
|
NM_004586.3(RPS6KA3):c.602T>C (p.Leu201Pro)
|
|
|
NM_004586.3(RPS6KA3):c.618C>T (p.His206=)
|
|
|
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile)
|
rs1325953089
|
|
NM_004586.3(RPS6KA3):c.631+12del
|
|
|
NM_004586.3(RPS6KA3):c.631+12dup
|
rs751517771
|
|
NM_004586.3(RPS6KA3):c.631+17C>T
|
|
|
NM_004586.3(RPS6KA3):c.632-1G>C
|
rs398124177
|
|
NM_004586.3(RPS6KA3):c.632-2A>C
|
rs2148686736
|
|
NM_004586.3(RPS6KA3):c.637G>T (p.Gly213Cys)
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NM_004586.3(RPS6KA3):c.642A>G (p.Leu214=)
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NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu)
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rs1555939456
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NM_004586.3(RPS6KA3):c.646A>T (p.Lys216Ter)
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rs1555939456
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NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys)
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NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala)
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rs122454125
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NM_004586.3(RPS6KA3):c.697G>T (p.Glu233Ter)
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NM_004586.3(RPS6KA3):c.70-15C>T
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NM_004586.3(RPS6KA3):c.70-19C>A
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NM_004586.3(RPS6KA3):c.70-20G>A
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NM_004586.3(RPS6KA3):c.707C>T (p.Ala236Val)
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rs1569216043
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NM_004586.3(RPS6KA3):c.709C>T (p.Pro237Ser)
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NM_004586.3(RPS6KA3):c.727C>T (p.Arg243Ter)
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rs1603425345
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NM_004586.3(RPS6KA3):c.740dup (p.Ser248fs)
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rs2148686409
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NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn)
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rs1603425338
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NM_004586.3(RPS6KA3):c.754T>C (p.Trp252Arg)
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rs1569215936
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NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp)
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rs1555939335
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NM_004586.3(RPS6KA3):c.765T>A (p.Gly255=)
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NM_004586.3(RPS6KA3):c.770_773del (p.Leu257fs)
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rs2148686334
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NM_004586.3(RPS6KA3):c.771A>G (p.Leu257=)
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NM_004586.3(RPS6KA3):c.772A>G (p.Met258Val)
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rs2148686350
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NM_004586.3(RPS6KA3):c.774+1G>C
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rs1555939331
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NM_004586.3(RPS6KA3):c.775-17A>G
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NM_004586.3(RPS6KA3):c.775-1del
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NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser)
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rs122454131
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NM_004586.3(RPS6KA3):c.83T>C (p.Ile28Thr)
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NM_004586.3(RPS6KA3):c.840_845+3del
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NM_004586.3(RPS6KA3):c.845+10C>T
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NM_004586.3(RPS6KA3):c.845+5G>A
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NM_004586.3(RPS6KA3):c.846-13A>G
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NM_004586.3(RPS6KA3):c.846A>C (p.Lys282Asn)
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NM_004586.3(RPS6KA3):c.877C>G (p.Pro293Ala)
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NM_004586.3(RPS6KA3):c.885G>A (p.Ala295=)
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NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs)
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NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del)
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rs1555933769
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NM_004586.3(RPS6KA3):c.898C>T (p.Arg300Ter)
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rs1603422409
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NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)
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NM_004586.3(RPS6KA3):c.932T>G (p.Leu311Ter)
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rs1603422403
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NM_004586.3(RPS6KA3):c.934+14_934+17del
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NM_004586.3(RPS6KA3):c.955G>T (p.Glu319Ter)
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NM_004586.3(RPS6KA3):c.958G>T (p.Glu320Ter)
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rs2067702700
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NM_004586.3(RPS6KA3):c.967A>G (p.Arg323Gly)
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NM_004586.3(RPS6KA3):c.999+2dup
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rs2067702056
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RPS6KA3, 187-BP DEL, NT406
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